Details of Disease | DrugMAP

General Information of Disease (ID: DIS0EIZY)

Disease Name	Leber congenital amaurosis 12
Synonyms	amaurosis congenita of Leber, type 12; Leber congenital amaurosis caused by mutation in RD3; Leber congenital amaurosis 12; LCA12; Leber congenital amaurosis type 12; RD3 Leber congenital amaurosis
Definition	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.
Disease Hierarchy	DISWNZMN: RD3-related retinopathy DISMGH8F: Leber congenital amaurosis DIS0EIZY: Leber congenital amaurosis 12
Disease Identifiers	MONDO ID MONDO_0012525 MESH ID C565697 UMLS CUI C1857743 OMIM ID 610612 MedGen ID 347535

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GUCY2D	TTWNFC2	Strong	Genetic Variation	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRK1	OT7MPSG7	Strong	Genetic Variation	[2]
GRK7	OT083IH0	Strong	Genetic Variation	[2]
RD3	OT2L9Y6M	Definitive	Autosomal recessive	[1]
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References

1	Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7.
2	RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.Hum Mol Genet. 2013 Oct 1;22(19):3894-905. doi: 10.1093/hmg/ddt244. Epub 2013 Jun 4.